"TCTN3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 386676	NM_015631.6(TCTN3):c.1764C>T (p.Val588=)	TCTN3	Single nucleotide variant (synonymous variant)	Orofacial-digital syndrome IV +3 more	GLikely benign
Select item 423293	NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)	TCTN3 (P513S +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +3 more	GConflicting classifications of pathogenicity
Select item 2183682	NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)	TCTN3	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 18 +2 more	GLikely benign
Select item 540484	NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)	TCTN3 (T316A)	Single nucleotide variant (missense variant +1 more)	TCTN3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2152111	NM_015631.6(TCTN3):c.628-10T>C	TCTN3	Single nucleotide variant (intron variant)	Joubert syndrome 18 +2 more	GLikely benign
Select item 591461	NM_015631.6(TCTN3):c.627+1G>A	TCTN3	Single nucleotide variant (intron variant +1 more)	TCTN3-related disorder +2 more	GLikely pathogenic
Select item 3032319	NM_015631.6(TCTN3):c.380+10G>C	TCTN3	Single nucleotide variant (intron variant)	TCTN3-related disorder	GLikely benign
Select item 1453812	NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)	LOC130004408, TCTN3 (M1R)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +3 more	GPathogenic/Likely pathogenic

ClinVar